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Autoinflammatory retinopathy in chronic infantile neurological cutaneous and articular (CINCA) syndrome
Tuan Tran1, Thomas Moloney1, Madeleine K Adams1
1Department of Ophthalmology, The Mater Misericordiae Hospital, South Brisbane, Queensland, Australia.
Abstract:
Chronic infantile neurological cutaneous and articular (CINCA) syndrome is a rare autosomal dominant autoinflammatory disease. We report the cases of monozygotic twins with CINCA syndrome whose predominant ocular manifestation was inflammatory rod-cone retinal dystrophy. Atypically, there were significant differences between twins in phenotype severity, suggestive of epigenetic differences and/or involvement of environmental factors.
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